Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia (2009)
Klopocki, Eva, Stricker, Sigmar, Van Oosterwijk, Jolieke, Vanek, Sebastian, Altmann, Jens, ...
Schwarzer, Wibke, Witte, Florian, Rajab, Anna, Mundlos, Stefan, Stricker, Sigmar
Mutations in ROR2 cause dominant brachydactyly type B (BDB1) or recessive Robinow syndrome (RRS), each characterized by a distinct combination of phenotypic features. We here report a novel nonsense...
Evolution of a core gene network for skeletogenesis in chordates (2008)
Hecht, Jochen, Stricker, Sigmar, Wiecha, Ulrike, Stiege, Asita, Panopoulou, Georgia, Podsiadlowski, Lars, ...
The skeleton is one of the most important features for the reconstruction of vertebrate phylogeny but few data are available to understand its molecular origin. In mammals the Runt genes are central...
Steichen-Gersdorf, Elisabeth, Gaßner, I ., Superti-Furga, A ., Ullmann, Reinhard, Stricker, Sigmar, Klopocki, E ., ...
Nievergelt syndrome (NS) is an autosomal dominant mesomelic dysplasia characterized by specific deformities of the radius, ulna, fibula and a rhomboid shape of the tibia. Phenotypically overlapping...
Winkel, Andreas, Stricker, Sigmar, Tylzanowski, Przemko, Seiffart, Virginia, Mundlos, Stefan, Gross, Gerhard, ...
Mutations in the receptor tyrosine kinase Ror2 account for Brachydactyly type B and Robinow Syndrome. We have identified two novel factors interacting with the Ror2 intracellular domain. TAK1 (TGF-β...
Stricker, Sigmar, Becker, Jutta, Rupps, Rosemarie, Pantzar, Tapio, Miertus, Jan, ...
Impaired fetal movement causes malformations, summarized as fetal akinesia deformation sequence (FADS), and is triggered by environmental and genetic factors. Acetylcholine receptor (AChR) components...
Raz, Regina, Stricker, Sigmar, Elizabetta Gazzerro, Elizabetta, Clor, Julie L., Witte, Florian, Nistala, Harakiran, ...
Mutations in ROR2 result in a spectrum of genetic disorders in humans that are classified, depending on the nature of the mutation and the clinical phenotype, as either autosomal dominant...
Hecht, Jochen, Seitz, Volkhard, Urban, Maren, Wagner, F., Robinson, P. N., Stiege, A., ...
Runx2 is an essential factor for skeletogenesis and heterozygous loss causes cleidocranial dysplasia in humans and a corresponding phenotype in the mouse. Homozygous Runx2-deficient mice lack...
Multiple roles for neurofibromin in skeletal development and growth. (2007)
Kolanczyk, Mateusz, Kossler, Nadine, Kühnisch, Jirko, Lavitas, Liron, Stricker, Sigmar, Wilkening, Ulrich, ...
Neurofibromatosis type 1 (NF1) is a prevalent genetic disorder primarily characterized by the formation of neurofibromas, café-au-lait spots and freckling. Skeletal abnormalities such as short...
Reijntjes, Susan, Stricker, Sigmar, Mankoo, Baljinder S.
We have examined the expression pattern of the avian Meox1 homeobox gene during early development and up to late limb bud stages. Its expression pattern indicates that it is involved in somite...
Multiple Roles for Neurofibromin in Skeletal Development and Growth (2007)
Kolanczyk, Mateusz, Kossler, Nadine, Kühnisch, Jirko, Lavitas, Liron, Stricker, Sigmar, Wilkening, Ulrich, ...
Neurofibromatosis type 1 (NF1) is a prevalent genetic disorder primarily characterized by the formation of neurofibromas, café-au-lait spots, and freckling. Skeletal abnormalities such as short...
Mammalian mitochondrial nitric oxide synthase: Characterization of a novel candidate. (2006)
Zemojtel, Tomasz, Kolanczyk, Mateusz, Kossler, Nadine, Stricker, Sigmar, Lurz, Rudi, Mikula, Ivan, ...
Recently a novel family of putative nitric oxide synthases, with AtNOS1, the plant member implicated in NO production, has been described. Here we present experimental evidence that a mammalian...
Mammalian mitochondrial nitric oxide synthase: Characterization of a novel candidate. (2006)
Zemojtel, Tomasz, Kolanczyk, Mateusz, Kossler, Nadine, Stricker, Sigmar, Lurz, Rudi, Mikula, Ivan, ...
Recently a novel family of putative nitric oxide synthases, with AtNOS1, the plant member implicated in NO production, has been described. Here we present experimental evidence that a mammalian...
Mammalian mitochondrial nitric oxide synthase: Characterization of a novel candidate. (2006)
Zemojtel, Tomasz, Kolanczyk, Mateusz, Kossler, Nadine, Stricker, Sigmar, Lurz, Rudi, Mikula, Ivan, ...
Recently a novel family of putative nitric oxide synthases, with AtNOS1, the plant member implicated in NO production, has been described. Here we present experimental evidence that a mammalian...
Guo, Gao, Booms, Patrick, Halushka, Marc, Dietz, Harry C., Ney, Andreas, Stricker, Sigmar, ...
Background— The primary cause of early death in untreated Marfan syndrome (MFS) patients is aortic dilatation and dissection. Methods and Results— We investigated whether ascending aortic samples...
Hoffmann, Katrin, Müller, Juliane S., Stricker, Sigmar, Megarbane, Andre, Rajab, Anna, Lindner, Tom H., ...
Escobar syndrome is a form of arthrogryposis multiplex congenita and features joint contractures, pterygia, and respiratory distress. Similar findings occur in newborns exposed to nicotinergic...
Expression of Type XXIII Collagen mRNA and Protein (2006)
Koch, Manuel, Veit, Guido, Stricker, Sigmar, Bhatt, Pinaki, Kutsch, Stefanie, Zhou, Peihong, ...
Collagen XXIII is a member of the transmembranous subfamily of collagens containing a cytoplasmic domain, a membrane-spanning hydrophobic domain, and three extracellular triple helical collagenous...
Stricker, Sigmar, Brieske, Norbert, Haupt, Julia, Mundlos, Stefan
Odd-skipped genes encode zinc-finger transcription factors with widespread roles in embryonic development. In Drosophila, odd-skipped acts as a pair-rule gene, while its orthologous gene in...
Stricker, Sigmar, Van Wijk, Nicole Verhey, Witte, Florian, Brieske, Norbert, Seidel, Kathrin, Mundlos, Stefan
Ror2 is a receptor tyrosine kinase mutated in the human syndromes Brachydactyly type B (BDB) and recessive Robinow syndrome (RS). In this study, we used the chick as a model to investigate the role...
Seemann, Petra, Schwappacher, Raphaela, Kjaer, Klaus W., Krakow, Deborah, Lehmann, Katarina, Dawson, Katherine, ...
Here we describe 2 mutations in growth and differentiation factor 5 (GDF5) that alter receptor-binding affinities. They cause brachydactyly type A2 (L441P) and symphalangism (R438L), conditions...
Sammar,Marei, Stricker,Sigmar, Schwabe,Georg C., Sieber,Christina, Hartung,Anke, Hanke,Michael, ...
The brachydactylies are a group of inherited disorders of the hands characterized by shortened digits. Mutations in the tyrosine kinase receptor Ror2 cause brachydactyly type B (BDB). Mutations in...
Sammar, Marei, Stricker, Sigmar, Schwabe, Georg C., Sieber, Christina, Hartung, Anke, Hanke, Michael, ...
The brachydactylies are a group of inherited disorders of the hands characterized by shortened digits. Mutations in the tyrosine kinase receptor Ror2 cause brachydactyly type B (BDB). Mutations in...
A Molecular Pathogenesis for Transcription Factor Associated Poly-Alanine Tract Expansions (2004)
Albrecht, Andrea N., Kornak, Uwe, Böddrich, Annett, Süring, Kathrin, Robinson, Peter N., Stiege, Asita C., ...
Poly-alanine (Ala) tract expansions in transcription factors have been shown to be associated with human birth defects such as malformations of the brain, the digits, and other structures. Expansions...
A molecular pathogenesis for transcription factor associated poly-alanine tract expansions (2004)
Albrecht, Andrea N., Kornak, Uwe, Böddrich, Annett, Süring, Kathrin, Robinson, Peter N., Stiege, Asita C., ...
Poly-alanine (Ala) tract expansions in transcription factors have been shown to be associated with human birth defects such as malformations of the brain, the digits, and other structures. Expansions...
A Molecular Pathogenesis for Transcription Factor Associated Poly-Alanine Tract Expansions (2004)
Albrecht, Andrea N., Kornak, Uwe, Böddrich, Annett, Süring, Kathrin, Robinson, Peter N., Stiege, Asita C., ...
Poly-alanine (Ala) tract expansions in transcription factors have been shown to be associated with human birth defects such as malformations of the brain, the digits, and other structures. Expansions...
Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2 (2003)
Lehmann,Katarina, Seemann,Petra, Stricker,Sigmar, Sammar,Marai, Meyer,Birgit, Suering,Katrin, ...
Brachydactyly (BD) type A2 is an autosomal dominant hand malformation characterized by shortening and lateral deviation of the index fingers and, to a variable degree, shortening and deviation of the...
Expression of galectin-3 in skeletal tissues is controlled by Runx2 (2003)
Stock,Michael, Schafer,Henning, Stricker,Sigmar, Gross,Gerhard, Mundlos,Stefan, Otto,Florian
The -galatoside-specific lectin galectin-3 is expressed in vivo in osteoblasts as well as in epiphyseal cartilage. Here we show that in vitro, galectin-3 expression is up-regulated in the...
Expression of galectin-3 in skeletal tissues is controlled by Runx2 (2003)
Stock,Michael, Schäfer,Henning, Stricker,Sigmar, Gross,Gerhard, Mundlos,Stefan, Otto,Florian
The -galatoside-specific lectin galectin-3 is expressed in vivo in osteoblasts as well as in epiphyseal cartilage. Here we show that in vitro, galectin-3 expression is up-regulated in the...
Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2 (2003)
Lehmann, Katarina, Seemann, Petra, Stricker, Sigmar, Sammar, Marai, Meyer, Birgit, Suering, Katrin, ...
Brachydactyly (BD) type A2 is an autosomal dominant hand malformation characterized by shortening and lateral deviation of the index fingers and, to a variable degree, shortening and deviation of the...
Expression of galectin-3 in skeletal tissues is controlled by Runx2 (2003)
Stock, Michael, Schäfer, Henning, Stricker, Sigmar, Gross, Gerhard, Mundlos, Stefan, Otto, Florian
The -galatoside-specific lectin galectin-3 is expressed in vivo in osteoblasts as well as in epiphyseal cartilage. Here we show that in vitro, galectin-3 expression is up-regulated in the...
Expression of galectin-3 in skeletal tissues is controlled by Runx2 (2003)
Stock, Michael, Schafer, Henning, Stricker, Sigmar, Gross, Gerhard, Mundlos, Stefan, Otto, Florian
The -galatoside-specific lectin galectin-3 is expressed in vivo in osteoblasts as well as in epiphyseal cartilage. Here we show that in vitro, galectin-3 expression is up-regulated in the...
Role of Runx Genes in Chondrocyte Differentiation (2002)
Stricker,Sigmar, Fundele,Reinald, Vortkamp,Andrea, Mundlos,Stefan
Runx2/Cbfa1 plays a central role in skeletal development as demonstrated by the absence of osteoblasts/bone in mice with inactivated Runx2/Cbfa1 alleles. To further investigate the role of Runx2 in...
Role of Runx Genes in Chondrocyte Differentiation (2002)
Stricker,Sigmar, Fundele,Reinald, Vortkamp,Andrea, Mundlos,Stefan
Runx2/Cbfa1 plays a central role in skeletal development as demonstrated by the absence of osteoblasts/bone in mice with inactivated Runx2/Cbfa1 alleles. To further investigate the role of Runx2 in...
Role of Runx Genes in Chondrocyte Differentiation (2002)
Stricker,Sigmar, Fundele,Reinald, Vortkamp,Andrea, Mundlos,Stefan
Runx2/Cbfa1 plays a central role in skeletal development as demonstrated by the absence of osteoblasts/bone in mice with inactivated Runx2/Cbfa1 alleles. To further investigate the role of Runx2 in...
Albrecht,Andrea N., Schwabe,Georg C., Stricker,Sigmar, Böddrich,Annett, Wanker,Erich E., Mundlos,Stefan
We have investigated the recessive mouse mutant synpolydactyly homolog (spdh) as a model for human synpolydactyly (SPD). As in human SPD, the spdh phenotype consists of central polydactyly,...
Albrecht,Andrea N., Schwabe,Georg C., Stricker,Sigmar, Böddrich,Annett, Wanker,Erich E., Mundlos,Stefan
We have investigated the recessive mouse mutant synpolydactyly homolog (spdh) as a model for human synpolydactyly (SPD). As in human SPD, the spdh phenotype consists of central polydactyly,...
Role of Runx Genes in Chondrocyte Differentiation (2002)
Stricker, Sigmar, Fundele, Reinald, Vortkamp, Andrea, Mundlos, Stefan
Runx2/Cbfa1 plays a central role in skeletal development as demonstrated by the absence of osteoblasts/bone in mice with inactivated Runx2/Cbfa1 alleles. To further investigate the role of Runx2 in...
Albrecht, Andrea N., Schwabe, Georg C., Stricker, Sigmar, Böddrich, Annett, Wanker, Erich E., Mundlos, Stefan
We have investigated the recessive mouse mutant synpolydactyly homolog (spdh) as a model for human synpolydactyly (SPD). As in human SPD, the spdh phenotype consists of central polydactyly,...
Role of Runx Genes in Chondrocyte Differentiation (2002)
Stricker, Sigmar, Fundele, Reinald, Vortkamp, Andrea, Mundlos, Stefan
Runx2/Cbfa1 plays a central role in skeletal development as demonstrated by the absence of osteoblasts/bone in mice with inactivated Runx2/Cbfa1 alleles. To further investigate the role of Runx2 in...
Role of Runx Genes in Chondrocyte Differentiation (2002)
Stricker, Sigmar, Fundele, Reinald, Vortkamp, Andrea, Mundlos, Stefan
Runx2/Cbfa1 plays a central role in skeletal development as demonstrated by the absence of osteoblasts/bone in mice with inactivated Runx2/Cbfa1 alleles. To further investigate the role of Runx2 in...
Albrecht, Andrea N., Schwabe, Georg C., Stricker, Sigmar, Böddrich, Annett, Wanker, Erich E., Mundlos, Stefan
We have investigated the recessive mouse mutant synpolydactyly homolog (spdh) as a model for human synpolydactyly (SPD). As in human SPD, the spdh phenotype consists of central polydactyly,...
Molekulargenetische Analyse der Knorpeldifferenzierung im Skelett von Wirbeltieren / (2002)
Potsdam, Universiẗat, Diss., 2002.
Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2
Lehmann, Katarina, Seemann, Petra, Stricker, Sigmar, Sammar, Marai, Meyer, Birgit, Süring, Katrin, ...
Brachydactyly (BD) type A2 is an autosomal dominant hand malformation characterized by shortening and lateral deviation of the index fingers and, to a variable degree, shortening and deviation of the...
Niedermaier, Michael, Schwabe, Georg C., Fees, Stephan, Helmrich, Anne, Brieske, Norbert, Seemann, Petra, ...
Short digits (Dsh) is a radiation-induced mouse mutant. Homozygous mice are characterized by multiple defects strongly resembling those resulting from Sonic hedgehog (Shh) inactivation. Heterozygous...
Seemann, Petra, Schwappacher, Raphaela, Kjaer, Klaus W., Krakow, Deborah, Lehmann, Katarina, Dawson, Katherine, ...
Here we describe 2 mutations in growth and differentiation factor 5 (GDF5) that alter receptor-binding affinities. They cause brachydactyly type A2 (L441P) and symphalangism (R438L), conditions...
Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2
Lehmann, Katarina, Seemann, Petra, Stricker, Sigmar, Sammar, Marai, Meyer, Birgit, Süring, Katrin, ...
Brachydactyly (BD) type A2 is an autosomal dominant hand malformation characterized by shortening and lateral deviation of the index fingers and, to a variable degree, shortening and deviation of the...
Niedermaier, Michael, Schwabe, Georg C., Fees, Stephan, Helmrich, Anne, Brieske, Norbert, Seemann, Petra, ...
Short digits (Dsh) is a radiation-induced mouse mutant. Homozygous mice are characterized by multiple defects strongly resembling those resulting from Sonic hedgehog (Shh) inactivation. Heterozygous...
Seemann, Petra, Schwappacher, Raphaela, Kjaer, Klaus W., Krakow, Deborah, Lehmann, Katarina, Dawson, Katherine, ...
Here we describe 2 mutations in growth and differentiation factor 5 (GDF5) that alter receptor-binding affinities. They cause brachydactyly type A2 (L441P) and symphalangism (R438L), conditions...
Hoffmann, Katrin, Müller, Juliane S., Stricker, Sigmar, Megarbane, Andre, Rajab, Anna, Lindner, Tom H., ...
Escobar syndrome is a form of arthrogryposis multiplex congenita and features joint contractures, pterygia, and respiratory distress. Similar findings occur in newborns exposed to nicotinergic...
Evolution of a Core Gene Network for Skeletogenesis in Chordates
Hecht, Jochen, Stricker, Sigmar, Wiecha, Ulrike, Stiege, Asita, Panopoulou, Georgia, Podsiadlowski, Lars, ...
The skeleton is one of the most important features for the reconstruction of vertebrate phylogeny but few data are available to understand its molecular origin. In mammals the Runt genes are central...
Michalk, Anne, Stricker, Sigmar, Becker, Jutta, Rupps, Rosemarie, Pantzar, Tapio, Miertus, Jan, ...
Impaired fetal movement causes malformations, summarized as fetal akinesia deformation sequence (FADS), and is triggered by environmental and genetic factors. Acetylcholine receptor (AChR) components...